Variant report

Variant	nsv872755
Chromosome Location	chr1:190135811-190186387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190173673..190175188-chr1:190177989..190179774,2	MCF-7	breast:
2	chr1:190142617..190144504-chr1:190148511..190150463,2	K562	blood:
3	chr1:190111398..190114378-chr1:190180159..190181756,2	K562	blood:
4	chr1:190142617..190144929-chr1:190148511..190151415,3	K562	blood:
5	chr1:190124803..190126326-chr1:190141675..190144317,2	MCF-7	breast:
6	chr1:190142617..190144504-chr1:190148511..190150463,2	K562	blood:
7	chr1:190142617..190144929-chr1:190148511..190151415,3	K562	blood:
8	chr1:190173673..190175188-chr1:190177989..190179774,2	MCF-7	breast:

No data

Extended variants
information (count: 1720 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1720 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1093086	chr1:190135811-190135812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189934973	chr1:190135838-190135839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182166141	chr1:190135842-190135843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577475640	chr1:190135843-190135844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145896805	chr1:190135853-190135854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571531132	chr1:190135957-190135958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537373635	chr1:190135998-190135999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77100566	chr1:190135999-190136000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561850172	chr1:190136020-190136021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537034037	chr1:190136021-190136022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541662422	chr1:190136044-190136045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535953528	chr1:190136101-190136102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1970123	chr1:190136102-190136103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374093864	chr1:190136132-190136133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572605503	chr1:190136145-190136146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544571877	chr1:190136150-190136151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564563276	chr1:190136186-190136187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113460025	chr1:190136193-190136194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571446254	chr1:190136198-190136199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575828657	chr1:190136252-190136253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544926267	chr1:190136279-190136280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538880537	chr1:190136282-190136283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561314279	chr1:190136284-190136285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530365795	chr1:190136287-190136288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547220072	chr1:190136294-190136295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187178861	chr1:190136403-190136404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532668245	chr1:190136422-190136423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75334125	chr1:190136501-190136502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569261765	chr1:190136552-190136553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530698709	chr1:190136708-190136709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550890955	chr1:190136726-190136727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144969067	chr1:190136769-190136770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138829794	chr1:190136778-190136779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1539473	chr1:190136788-190136789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs815334	chr1:190136798-190136799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538375943	chr1:190136802-190136803	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536064769	chr1:190136809-190136810	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149375470	chr1:190136814-190136815	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575238783	chr1:190136823-190136824	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs544576207	chr1:190136849-190136850	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554224993	chr1:190136855-190136856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143689726	chr1:190136879-190136880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs575042957	chr1:190137020-190137021	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs115757945	chr1:190137021-190137022	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148248042	chr1:190137081-190137082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576771152	chr1:190137131-190137132	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs541709135	chr1:190137138-190137139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs546353755	chr1:190137293-190137294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560207665	chr1:190137294-190137295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531775560	chr1:190137315-190137316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190132400-190136800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:190136400-190136800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:190136400-190136800	Enhancers	NH-A	brain
4	chr1:190136400-190138600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:190136400-190139400	Enhancers	A549	lung
6	chr1:190136600-190137400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:190136800-190137200	Flanking Active TSS	NH-A	brain
8	chr1:190136800-190137600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:190136800-190140400	Enhancers	HSMM	muscle
10	chr1:190137000-190137200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:190137000-190138600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:190137000-190139200	Enhancers	HMEC	breast
13	chr1:190137200-190138200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:190137200-190140400	Enhancers	NH-A	brain
15	chr1:190137400-190137800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:190137600-190137800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:190137600-190138000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:190137600-190138600	Enhancers	NHEK	skin
19	chr1:190137800-190138200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:190137800-190138600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:190137800-190138600	Enhancers	Brain Germinal Matrix	brain
22	chr1:190137800-190140400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:190138000-190138600	Enhancers	Brain Angular Gyrus	brain
24	chr1:190138000-190138600	Enhancers	Brain Hippocampus Middle	brain
25	chr1:190138200-190138600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:190138200-190138600	Enhancers	Brain Substantia Nigra	brain
27	chr1:190138200-190138800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:190138400-190138600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:190138400-190138600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:190138600-190139800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:190138600-190140000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:190138600-190140600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:190138600-190142000	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:190138800-190142200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:190139800-190140800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:190140000-190140400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:190140400-190141800	Weak transcription	HSMM	muscle
38	chr1:190140400-190142000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:190140400-190148800	Weak transcription	NH-A	brain
40	chr1:190140400-190149000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:190140600-190141800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:190141800-190142000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:190141800-190142000	Enhancers	Colon Smooth Muscle	Colon
44	chr1:190141800-190142800	Enhancers	Fetal Heart	heart
45	chr1:190141800-190142800	Enhancers	HSMM	muscle
46	chr1:190141800-190142800	Enhancers	HSMMtube	muscle
47	chr1:190142000-190142200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:190142000-190142400	Enhancers	Brain Hippocampus Middle	brain
49	chr1:190142000-190142800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:190142200-190142400	Enhancers	Muscle Satellite Cultured Cells	--

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